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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked cone-rod dystrophy 1
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Accession:DOID:0111008 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: COD1;   CORDX1;   X-linked cone dystrophy 1;   X-linked cone-rod dystrophy, type 1
 primary_id: MESH:C564438;   MESH:C564439
 alt_id: OMIM:304020;   RDO:0008670;   RDO:0013402;   RDO:0013403
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked cone-rod dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO DNA:deletions, insertion, snp:cds:multiple (human)
DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human)
ClinVar Annotator: match by term: Cone-rod dystrophy, X-linked 1
OMIM
ClinVar
PMID:11857109, PMID:11875055, PMID:15914600, PMID:11857109, PMID:11875055, PMID:20007830 RGD:8553225, RGD:8553227, RGD:8553232 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        Hereditary Eye Diseases 576
          cone-rod dystrophy 79
            X-linked cone-rod dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            eye degenerative disease 468
              retinal degeneration 466
                fundus dystrophy 333
                  cone-rod dystrophy 79
                    X-linked cone-rod dystrophy 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.